#ID(s) interactor A ID(s) interactor B Alt. ID(s) interactor A Alt. ID(s) interactor B Alias(es) interactor A Alias(es) interactor B Interaction detection method(s) Publication 1st author(s) Publication Identifier(s) Taxid interactor A Taxid interactor B Interaction type(s) Source database(s) Interaction identifier(s) Confidence value(s) Expansion method(s) Biological role(s) interactor A Biological role(s) interactor B Experimental role(s) interactor A Experimental role(s) interactor B Type(s) interactor A Type(s) interactor B Xref(s) interactor A Xref(s) interactor B Interaction Xref(s) Annotation(s) interactor A Annotation(s) interactor B Interaction annotation(s) Host organism(s) Interaction parameter(s) Creation date Update date Checksum(s) interactor A Checksum(s) interactor B Interaction Checksum(s) Negative Feature(s) interactor A Feature(s) interactor B Stoichiometry(s) interactor A Stoichiometry(s) interactor B Identification method participant A Identification method participant B uniprotkb:Q9HC29 uniprotkb:Q10471 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-10226985|uniprotkb:A8K1Y3|uniprotkb:C5HU00|uniprotkb:Q9NPY4|uniprotkb:B7Z8V8|ensembl:ENSP00000355632 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:galt2_human(display_long)|uniprotkb:GALNT2(gene name)|psi-mi:GALNT2(display_short)|uniprotkb:Polypeptide GalNAc transferase 2(gene name synonym)|uniprotkb:Protein-UDP acetylgalactosaminyltransferase 2(gene name synonym)|uniprotkb:"UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2"(gene name synonym) psi-mi:"MI:0018"(two hybrid) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10898926|imex:IM-24348-1 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N refseq:NP_001278795.1|refseq:NP_004472.1|ensembl:ENSG00000143641(gene)|ensembl:ENST00000366672(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0004653"(polypeptide N-acetylgalactosaminyltransferase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005795"(Golgi stack)|go:"GO:0006493"(protein O-linked glycosylation)|go:"GO:0016020"(membrane)|go:"GO:0016266"(O-glycan processing)|go:"GO:0018242"(protein O-linked glycosylation via serine)|go:"GO:0018243"(protein O-linked glycosylation via threonine)|go:"GO:0030145"(manganese ion binding)|go:"GO:0030173"(integral component of Golgi membrane)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0032580"(Golgi cisterna membrane)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051604"(protein maturation)|interpro:IPR000772(Ricin B lectin)|interpro:IPR001173(Glycosyl transferase, family 2)|interpro:IPR029044|interpro:IPR035992|rcsb pdb:2FFU|rcsb pdb:2FFV|rcsb pdb:4D0T|rcsb pdb:4D0Z|rcsb pdb:4D11|rcsb pdb:5AJN|rcsb pdb:5AJO|rcsb pdb:5AJP|rcsb pdb:5FV9|rcsb pdb:5NDF|rcsb pdb:6E7I|rcsb pdb:6EGS|rcsb pdb:6NQT|reactome:R-HSA-6811436|reactome:R-HSA-913709 - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:no figure|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:z7hqeQjq7k5iQZfnLHZ4ioplKPU9606 rigid:MgKlph++claOwAuIjFL+RZOBkbQ false - - - - psi-mi:"MI:0078"(nucleotide sequence identification) psi-mi:"MI:0078"(nucleotide sequence identification) uniprotkb:Q9HC29 uniprotkb:Q9Y3D6 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-3385283|ensembl:ENSP00000223136|uniprotkb:Q9BTP3 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:fis1_human(display_long)|uniprotkb:FIS1(gene name)|psi-mi:FIS1(display_short)|uniprotkb:TTC11(gene name synonym)|uniprotkb:FIS1 homolog(gene name synonym)|uniprotkb:Tetratricopeptide repeat protein 11(gene name synonym)|uniprotkb:CGI-135(orf name) psi-mi:"MI:0018"(two hybrid) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10898963|imex:IM-24348-3 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N ensembl:ENSG00000214253(gene)|ensembl:ENST00000223136(transcript)|go:"GO:0000266"(mitochondrial fission)|go:"GO:0000422"(autophagy of mitochondrion)|go:"GO:0001836"(release of cytochrome c from mitochondria)|go:"GO:0005739"(mitochondrion)|go:"GO:0005777"(peroxisome)|go:"GO:0005778"(peroxisomal membrane)|go:"GO:0005779"(integral component of peroxisomal membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006626"(protein targeting to mitochondrion)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0008053"(mitochondrial fusion)|go:"GO:0010821"(regulation of mitochondrion organization)|go:"GO:0014850"(response to muscle activity)|go:"GO:0016020"(membrane)|go:"GO:0016559"(peroxisome fission)|go:"GO:0031307"(integral component of mitochondrial outer membrane)|go:"GO:0031667"(response to nutrient levels)|go:"GO:0032471"(negative regulation of endoplasmic reticulum calcium ion concentration)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035584"(calcium-mediated signaling using intracellular calcium source)|go:"GO:0042802"(identical protein binding)|go:"GO:0043280"(positive regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043525"(positive regulation of neuron apoptotic process)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0051561"(positive regulation of mitochondrial calcium ion concentration)|go:"GO:0070584"(mitochondrion morphogenesis)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0090141"(positive regulation of mitochondrial fission)|go:"GO:0090314"(positive regulation of protein targeting to membrane)|go:"GO:0097237"(cellular response to toxic substance)|go:"GO:1901653"(cellular response to peptide)|go:"GO:1902617"(response to fluoride)|go:"GO:1903579"(negative regulation of ATP metabolic process)|go:"GO:1904579"(cellular response to thapsigargin)|go:"GO:1905395"(response to flavonoid)|go:"GO:1990910"(response to hypobaric hypoxia)|go:"GO:2000192"(negative regulation of fatty acid transport)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR016543(Tetratricopeptide repeat 11 Fission 1 protein)|interpro:IPR028058|interpro:IPR028061|interpro:IPR033745|mint:Q9Y3D6|rcsb pdb:1NZN|rcsb pdb:1PC2|reactome:R-HSA-9603798|go:"GO:0043653"(mitochondrial fragmentation involved in apoptotic process)|refseq:NP_057152.2 - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:no figure-2|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:5YzrFokAQLKvMCqzS12qalQtu489606 rigid:IzspypOOWTSrfqKPuwjXuO3ijKY false - - - - psi-mi:"MI:0078"(nucleotide sequence identification) psi-mi:"MI:0078"(nucleotide sequence identification) uniprotkb:Q9HC29 uniprotkb:Q04724 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-711424|uniprotkb:Q5T3G4|uniprotkb:Q969V9|ensembl:ENSP00000365682|uniprotkb:A8K495 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:tle1_human(display_long)|uniprotkb:TLE1(gene name)|psi-mi:TLE1(display_short)|uniprotkb:Enhancer of split groucho-like protein 1(gene name synonym)|uniprotkb:"E(Sp1) homolog"(gene name synonym) psi-mi:"MI:0018"(two hybrid) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10898974|imex:IM-24348-5 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N mint:Q04724|rcsb pdb:1GXR|rcsb pdb:2CE8|rcsb pdb:2CE9|rcsb pdb:4OM2|rcsb pdb:4OM3|rcsb pdb:5MWJ|reactome:R-HSA-201722|reactome:R-HSA-2122947|reactome:R-HSA-3769402|reactome:R-HSA-4641265|ensembl:ENSG00000196781(gene)|ensembl:ENST00000376499(transcript)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005829"(cytosol)|go:"GO:0007165"(signal transduction)|go:"GO:0007275"(multicellular organism development)|go:"GO:0008134"(transcription factor binding)|go:"GO:0009887"(animal organ morphogenesis)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030178"(negative regulation of Wnt signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1990907"(beta-catenin-TCF complex)|go:"GO:2000811"(negative regulation of anoikis)|interpro:IPR001680(WD40 repeat)|interpro:IPR005617(Groucho/TLE, N-terminal Q-rich region)|interpro:IPR009146(Groucho/transducin-like enhancer)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR036322|refseq:NP_005068.2|refseq:NP_001290032.1|refseq:NP_001290033.1|dip:DIP-36665N - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:no figure-3|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:mOWun+rOiFbfy4AZ1pQ+K3GRriU9606 rigid:kbkAs5uynixHJohHLF8s1vTgBEw false - - - - psi-mi:"MI:0078"(nucleotide sequence identification) psi-mi:"MI:0078"(nucleotide sequence identification) uniprotkb:Q9HC29 uniprotkb:P08670 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-353844|uniprotkb:Q15867|uniprotkb:Q15868|uniprotkb:Q15869|uniprotkb:Q548L2|uniprotkb:Q6LER9|uniprotkb:Q8N850|uniprotkb:Q96ML2|uniprotkb:Q9NTM3|uniprotkb:B0YJC2|intact:EBI-3442369|uniprotkb:D3DRU4|ensembl:ENSP00000224237|ensembl:ENSP00000446007 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:vime_human(display_long)|uniprotkb:VIM(gene name)|psi-mi:VIM(display_short) psi-mi:"MI:0018"(two hybrid) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10898982|imex:IM-24348-7 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N refseq:NP_003371.2|ensembl:ENSG00000026025(gene)|ensembl:ENST00000224237(transcript)|ensembl:ENST00000544301(transcript)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005737"(cytoplasm)|go:"GO:0005777"(peroxisome)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031252"(cell leading edge)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0070307"(lens fiber cell development)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097110"(scaffold protein binding)|go:"GO:1990254"(keratin filament binding)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027699|interpro:IPR039008|mint:P08670|rcsb pdb:1GK4|rcsb pdb:1GK6|rcsb pdb:1GK7|rcsb pdb:3G1E|rcsb pdb:3KLT|rcsb pdb:3S4R|rcsb pdb:3SSU|rcsb pdb:3SWK|rcsb pdb:3TRT|rcsb pdb:3UF1|rcsb pdb:4MCY|rcsb pdb:4MCZ|rcsb pdb:4MD0|rcsb pdb:4MD5|rcsb pdb:4MDI|rcsb pdb:4MDJ|rcsb pdb:4YPC|rcsb pdb:4YV3|rcsb pdb:5WHF|rcsb pdb:6ATF|rcsb pdb:6ATI|rcsb pdb:6BIR|rcsb pdb:6YXK|reactome:R-HSA-264870|reactome:R-HSA-390522|reactome:R-HSA-6785807|reactome:R-HSA-9013422|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9646399|refseq:XP_006717563.1|dip:DIP-32507N - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:no figure-4|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:GhAhVuXMNxi6P5J0CfNi5l9bjRk9606 rigid:8GNKswWWokd1AtXj5Pzyy7mwoiE false - - - - psi-mi:"MI:0078"(nucleotide sequence identification) psi-mi:"MI:0078"(nucleotide sequence identification) uniprotkb:Q9HC29 uniprotkb:Q92993 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-399080|uniprotkb:O95624|uniprotkb:Q13430|uniprotkb:Q17RW5|uniprotkb:Q6GSE8|uniprotkb:Q9BWK7|uniprotkb:Q561W3|intact:EBI-28987721|ensembl:ENSP00000366245|uniprotkb:C9JL99|uniprotkb:B4E3C7 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:kat5_human(display_long)|uniprotkb:KAT5(gene name)|psi-mi:KAT5(display_short)|uniprotkb:TIP60(gene name synonym)|uniprotkb:HTATIP(gene name synonym)|uniprotkb:Lysine acetyltransferase 5(gene name synonym)|uniprotkb:"cPLA(2)-interacting protein"(gene name synonym)|uniprotkb:Histone acetyltransferase HTATIP(gene name synonym)|uniprotkb:60 kDa Tat-interactive protein(gene name synonym) psi-mi:"MI:0018"(two hybrid) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10898987|imex:IM-24348-21 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N refseq:NP_006379.2|refseq:NP_874368.1|refseq:NP_874369.1|reactome:R-HSA-5685942|reactome:R-HSA-5693548|reactome:R-HSA-5693554|reactome:R-HSA-5693565|reactome:R-HSA-5693568|reactome:R-HSA-5693571|reactome:R-HSA-5693579|reactome:R-HSA-5693607|reactome:R-HSA-5693616|reactome:R-HSA-6804756|reactome:R-HSA-69473|reactome:R-HSA-9018519|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0061733"(peptide-lysine-N-acetyltransferase activity)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0090398"(cellular senescence)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1901985"(positive regulation of protein acetylation)|interpro:IPR000953(Chromo domain)|interpro:IPR002717(MOZ/SAS-like protein)|interpro:IPR016181(Acyl-CoA N-acyltransferase)|interpro:IPR016197(Chromo domain-like)|interpro:IPR025995|interpro:IPR036388|interpro:IPR037995|interpro:IPR040706|rcsb pdb:2EKO|rcsb pdb:2OU2|rcsb pdb:4QQG|reactome:R-HSA-201722|reactome:R-HSA-2559586|reactome:R-HSA-3214847|reactome:R-HSA-5685938|ensembl:ENSG00000172977(gene)|ensembl:ENST00000377046(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000812"(Swr1 complex)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0004402"(histone acetyltransferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005730"(nucleolus)|go:"GO:0006302"(double-strand break repair)|go:"GO:0006978"(DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0010508"(positive regulation of autophagy)|go:"GO:0016407"(acetyltransferase activity)|go:"GO:0016573"(histone acetylation)|go:"GO:0018394"(peptidyl-lysine acetylation)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032777"(Piccolo NuA4 histone acetyltransferase complex)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0040008"(regulation of growth)|go:"GO:0042393"(histone binding)|go:"GO:0043161"(proteasome-mediated ubiquitin-dependent protein catabolic process)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|refseq:NP_001193762.1|ensembl:ENST00000341318|ensembl:ENSP00000340330|ensembl:ENST00000352980|ensembl:ENSP00000344955|ensembl:ENSP00000366245|ensembl:ENST00000530446|ensembl:ENSP00000434765|dip:DIP-5998N - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:no figure-5|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:JvtMfge2Q7fuGOTLSWqR3syL/3s9606 rigid:S6EA3eMjTZNsoiLJvPvjcOwAlJw false - - - - psi-mi:"MI:0078"(nucleotide sequence identification) psi-mi:"MI:0078"(nucleotide sequence identification) uniprotkb:Q9HC29 uniprotkb:Q16537 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-968374|uniprotkb:B7ZAW5|uniprotkb:J3KQN6|ensembl:ENSP00000337641|uniprotkb:Q52LW4|uniprotkb:A4FU37|uniprotkb:B7ZKK8|intact:EBI-10962508|uniprotkb:B7ZKK9 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:2a5e_human(display_long)|uniprotkb:PPP2R5E(gene name)|psi-mi:PPP2R5E(display_short)|uniprotkb:PP2A B subunit isoform B'-epsilon(gene name synonym)|uniprotkb:PP2A B subunit isoform B56-epsilon(gene name synonym)|uniprotkb:PP2A B subunit isoform PR61-epsilon(gene name synonym)|uniprotkb:PP2A B subunit isoform R5-epsilon(gene name synonym) psi-mi:"MI:0018"(two hybrid) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10898993|imex:IM-24348-9 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0496"(bait) psi-mi:"MI:0498"(prey) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N ensembl:ENSG00000154001(gene)|ensembl:ENST00000337537(transcript)|go:"GO:0000159"(protein phosphatase type 2A complex)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007165"(signal transduction)|go:"GO:0019888"(protein phosphatase regulator activity)|go:"GO:0031952"(regulation of protein autophosphorylation)|go:"GO:0072542"(protein phosphatase activator activity)|interpro:IPR002554(Protein phosphatase 2A, regulatory B subunit, B56)|interpro:IPR016024(Armadillo-type fold)|mint:Q16537|reactome:R-HSA-141444|reactome:R-HSA-195253|reactome:R-HSA-196299|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-389513|reactome:R-HSA-432142|reactome:R-HSA-4641262|reactome:R-HSA-5339716|reactome:R-HSA-5358747|reactome:R-HSA-5358749|reactome:R-HSA-5358751|reactome:R-HSA-5358752|reactome:R-HSA-5467337|reactome:R-HSA-5467340|reactome:R-HSA-5467348|reactome:R-HSA-5663220|reactome:R-HSA-5673000|reactome:R-HSA-5675221|reactome:R-HSA-6811558|reactome:R-HSA-68877|reactome:R-HSA-9648025|interpro:IPR011989(Armadillo-like helical)|refseq:NP_006237.1|refseq:NP_001269108.1|refseq:NP_001269109.1|refseq:NP_001269110.1|refseq:NP_001269111.1 - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:no figure-6|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:4932(yeasx)|taxid:4932("Saccharomyces cerevisiae (Baker's yeast)") - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:m6vjnzx9eg+HpXrI2KKBLPbObzA9606 rigid:awp3cqfje71M5UmxOGA7BkJyNRM false - - - - psi-mi:"MI:0078"(nucleotide sequence identification) psi-mi:"MI:0078"(nucleotide sequence identification) uniprotkb:Q9HC29 uniprotkb:Q92993 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-399080|uniprotkb:O95624|uniprotkb:Q13430|uniprotkb:Q17RW5|uniprotkb:Q6GSE8|uniprotkb:Q9BWK7|uniprotkb:Q561W3|intact:EBI-28987721|ensembl:ENSP00000366245|uniprotkb:C9JL99|uniprotkb:B4E3C7 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:kat5_human(display_long)|uniprotkb:KAT5(gene name)|psi-mi:KAT5(display_short)|uniprotkb:TIP60(gene name synonym)|uniprotkb:HTATIP(gene name synonym)|uniprotkb:Lysine acetyltransferase 5(gene name synonym)|uniprotkb:"cPLA(2)-interacting protein"(gene name synonym)|uniprotkb:Histone acetyltransferase HTATIP(gene name synonym)|uniprotkb:60 kDa Tat-interactive protein(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10899023|imex:IM-24348-15 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N refseq:NP_006379.2|refseq:NP_874368.1|refseq:NP_874369.1|reactome:R-HSA-5685942|reactome:R-HSA-5693548|reactome:R-HSA-5693554|reactome:R-HSA-5693565|reactome:R-HSA-5693568|reactome:R-HSA-5693571|reactome:R-HSA-5693579|reactome:R-HSA-5693607|reactome:R-HSA-5693616|reactome:R-HSA-6804756|reactome:R-HSA-69473|reactome:R-HSA-9018519|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046872"(metal ion binding)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0061733"(peptide-lysine-N-acetyltransferase activity)|go:"GO:0071392"(cellular response to estradiol stimulus)|go:"GO:0090398"(cellular senescence)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1901985"(positive regulation of protein acetylation)|interpro:IPR000953(Chromo domain)|interpro:IPR002717(MOZ/SAS-like protein)|interpro:IPR016181(Acyl-CoA N-acyltransferase)|interpro:IPR016197(Chromo domain-like)|interpro:IPR025995|interpro:IPR036388|interpro:IPR037995|interpro:IPR040706|rcsb pdb:2EKO|rcsb pdb:2OU2|rcsb pdb:4QQG|reactome:R-HSA-201722|reactome:R-HSA-2559586|reactome:R-HSA-3214847|reactome:R-HSA-5685938|ensembl:ENSG00000172977(gene)|ensembl:ENST00000377046(transcript)|go:"GO:0000122"(negative regulation of transcription by RNA polymerase II)|go:"GO:0000812"(Swr1 complex)|go:"GO:0003712"(transcription coregulator activity)|go:"GO:0003713"(transcription coactivator activity)|go:"GO:0004402"(histone acetyltransferase activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005730"(nucleolus)|go:"GO:0006302"(double-strand break repair)|go:"GO:0006978"(DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator)|go:"GO:0010212"(response to ionizing radiation)|go:"GO:0010508"(positive regulation of autophagy)|go:"GO:0016407"(acetyltransferase activity)|go:"GO:0016573"(histone acetylation)|go:"GO:0018394"(peptidyl-lysine acetylation)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032777"(Piccolo NuA4 histone acetyltransferase complex)|go:"GO:0035267"(NuA4 histone acetyltransferase complex)|go:"GO:0040008"(regulation of growth)|go:"GO:0042393"(histone binding)|go:"GO:0043161"(proteasome-mediated ubiquitin-dependent protein catabolic process)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0045893"(positive regulation of transcription, DNA-templated)|refseq:NP_001193762.1|ensembl:ENST00000341318|ensembl:ENSP00000340330|ensembl:ENST00000352980|ensembl:ENSP00000344955|ensembl:ENSP00000366245|ensembl:ENST00000530446|ensembl:ENSP00000434765|dip:DIP-5998N - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:no figure-5|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-sw480)|taxid:9606(Human SW480 adenocarcinoma cell line) - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:JvtMfge2Q7fuGOTLSWqR3syL/3s9606 rigid:S6EA3eMjTZNsoiLJvPvjcOwAlJw false myc tag:n-n - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q9HC29 uniprotkb:Q04724 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-711424|uniprotkb:Q5T3G4|uniprotkb:Q969V9|ensembl:ENSP00000365682|uniprotkb:A8K495 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:tle1_human(display_long)|uniprotkb:TLE1(gene name)|psi-mi:TLE1(display_short)|uniprotkb:Enhancer of split groucho-like protein 1(gene name synonym)|uniprotkb:"E(Sp1) homolog"(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10899031|imex:IM-24348-19 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N mint:Q04724|rcsb pdb:1GXR|rcsb pdb:2CE8|rcsb pdb:2CE9|rcsb pdb:4OM2|rcsb pdb:4OM3|rcsb pdb:5MWJ|reactome:R-HSA-201722|reactome:R-HSA-2122947|reactome:R-HSA-3769402|reactome:R-HSA-4641265|ensembl:ENSG00000196781(gene)|ensembl:ENST00000376499(transcript)|go:"GO:0003714"(transcription corepressor activity)|go:"GO:0005634"(nucleus)|go:"GO:0005654"(nucleoplasm)|go:"GO:0005667"(transcription regulator complex)|go:"GO:0005829"(cytosol)|go:"GO:0007165"(signal transduction)|go:"GO:0007275"(multicellular organism development)|go:"GO:0008134"(transcription factor binding)|go:"GO:0009887"(animal organ morphogenesis)|go:"GO:0010628"(positive regulation of gene expression)|go:"GO:0016055"(Wnt signaling pathway)|go:"GO:0030178"(negative regulation of Wnt signaling pathway)|go:"GO:0042802"(identical protein binding)|go:"GO:0043124"(negative regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0045892"(negative regulation of transcription, DNA-templated)|go:"GO:0090090"(negative regulation of canonical Wnt signaling pathway)|go:"GO:0140297"(DNA-binding transcription factor binding)|go:"GO:1990907"(beta-catenin-TCF complex)|go:"GO:2000811"(negative regulation of anoikis)|interpro:IPR001680(WD40 repeat)|interpro:IPR005617(Groucho/TLE, N-terminal Q-rich region)|interpro:IPR009146(Groucho/transducin-like enhancer)|interpro:IPR015943(WD40/YVTN repeat-like)|interpro:IPR019775|interpro:IPR036322|refseq:NP_005068.2|refseq:NP_001290032.1|refseq:NP_001290033.1|dip:DIP-36665N - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:Fig 1|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-sw480)|taxid:9606(Human SW480 adenocarcinoma cell line) - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:mOWun+rOiFbfy4AZ1pQ+K3GRriU9606 rigid:kbkAs5uynixHJohHLF8s1vTgBEw false myc tag:n-n - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q9HC29 uniprotkb:Q16537 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-968374|uniprotkb:B7ZAW5|uniprotkb:J3KQN6|ensembl:ENSP00000337641|uniprotkb:Q52LW4|uniprotkb:A4FU37|uniprotkb:B7ZKK8|intact:EBI-10962508|uniprotkb:B7ZKK9 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:2a5e_human(display_long)|uniprotkb:PPP2R5E(gene name)|psi-mi:PPP2R5E(display_short)|uniprotkb:PP2A B subunit isoform B'-epsilon(gene name synonym)|uniprotkb:PP2A B subunit isoform B56-epsilon(gene name synonym)|uniprotkb:PP2A B subunit isoform PR61-epsilon(gene name synonym)|uniprotkb:PP2A B subunit isoform R5-epsilon(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10899027|imex:IM-24348-17 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N ensembl:ENSG00000154001(gene)|ensembl:ENST00000337537(transcript)|go:"GO:0000159"(protein phosphatase type 2A complex)|go:"GO:0005634"(nucleus)|go:"GO:0005737"(cytoplasm)|go:"GO:0005829"(cytosol)|go:"GO:0006470"(protein dephosphorylation)|go:"GO:0007165"(signal transduction)|go:"GO:0019888"(protein phosphatase regulator activity)|go:"GO:0031952"(regulation of protein autophosphorylation)|go:"GO:0072542"(protein phosphatase activator activity)|interpro:IPR002554(Protein phosphatase 2A, regulatory B subunit, B56)|interpro:IPR016024(Armadillo-type fold)|mint:Q16537|reactome:R-HSA-141444|reactome:R-HSA-195253|reactome:R-HSA-196299|reactome:R-HSA-2467813|reactome:R-HSA-2500257|reactome:R-HSA-389513|reactome:R-HSA-432142|reactome:R-HSA-4641262|reactome:R-HSA-5339716|reactome:R-HSA-5358747|reactome:R-HSA-5358749|reactome:R-HSA-5358751|reactome:R-HSA-5358752|reactome:R-HSA-5467337|reactome:R-HSA-5467340|reactome:R-HSA-5467348|reactome:R-HSA-5663220|reactome:R-HSA-5673000|reactome:R-HSA-5675221|reactome:R-HSA-6811558|reactome:R-HSA-68877|reactome:R-HSA-9648025|interpro:IPR011989(Armadillo-like helical)|refseq:NP_006237.1|refseq:NP_001269108.1|refseq:NP_001269109.1|refseq:NP_001269110.1|refseq:NP_001269111.1 - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:Fig 1|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-sw480)|taxid:9606(Human SW480 adenocarcinoma cell line) - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:m6vjnzx9eg+HpXrI2KKBLPbObzA9606 rigid:awp3cqfje71M5UmxOGA7BkJyNRM false myc tag:n-n - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q9HC29 uniprotkb:Q10471 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-10226985|uniprotkb:A8K1Y3|uniprotkb:C5HU00|uniprotkb:Q9NPY4|uniprotkb:B7Z8V8|ensembl:ENSP00000355632 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:galt2_human(display_long)|uniprotkb:GALNT2(gene name)|psi-mi:GALNT2(display_short)|uniprotkb:Polypeptide GalNAc transferase 2(gene name synonym)|uniprotkb:Protein-UDP acetylgalactosaminyltransferase 2(gene name synonym)|uniprotkb:"UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 2"(gene name synonym) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10899011|imex:IM-24348-11 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N refseq:NP_001278795.1|refseq:NP_004472.1|ensembl:ENSG00000143641(gene)|ensembl:ENST00000366672(transcript)|go:"GO:0000139"(Golgi membrane)|go:"GO:0004653"(polypeptide N-acetylgalactosaminyltransferase activity)|go:"GO:0005576"(extracellular region)|go:"GO:0005789"(endoplasmic reticulum membrane)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005795"(Golgi stack)|go:"GO:0006493"(protein O-linked glycosylation)|go:"GO:0016020"(membrane)|go:"GO:0016266"(O-glycan processing)|go:"GO:0018242"(protein O-linked glycosylation via serine)|go:"GO:0018243"(protein O-linked glycosylation via threonine)|go:"GO:0030145"(manganese ion binding)|go:"GO:0030173"(integral component of Golgi membrane)|go:"GO:0030246"(carbohydrate binding)|go:"GO:0032580"(Golgi cisterna membrane)|go:"GO:0048471"(perinuclear region of cytoplasm)|go:"GO:0051604"(protein maturation)|interpro:IPR000772(Ricin B lectin)|interpro:IPR001173(Glycosyl transferase, family 2)|interpro:IPR029044|interpro:IPR035992|rcsb pdb:2FFU|rcsb pdb:2FFV|rcsb pdb:4D0T|rcsb pdb:4D0Z|rcsb pdb:4D11|rcsb pdb:5AJN|rcsb pdb:5AJO|rcsb pdb:5AJP|rcsb pdb:5FV9|rcsb pdb:5NDF|rcsb pdb:6E7I|rcsb pdb:6EGS|rcsb pdb:6NQT|reactome:R-HSA-6811436|reactome:R-HSA-913709 - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:Fig 1|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-sw480)|taxid:9606(Human SW480 adenocarcinoma cell line) - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:z7hqeQjq7k5iQZfnLHZ4ioplKPU9606 rigid:MgKlph++claOwAuIjFL+RZOBkbQ false myc tag:n-n - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q9HC29 uniprotkb:Q9Y3D6 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-3385283|ensembl:ENSP00000223136|uniprotkb:Q9BTP3 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:fis1_human(display_long)|uniprotkb:FIS1(gene name)|psi-mi:FIS1(display_short)|uniprotkb:TTC11(gene name synonym)|uniprotkb:FIS1 homolog(gene name synonym)|uniprotkb:Tetratricopeptide repeat protein 11(gene name synonym)|uniprotkb:CGI-135(orf name) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10899015|imex:IM-24348-13 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N ensembl:ENSG00000214253(gene)|ensembl:ENST00000223136(transcript)|go:"GO:0000266"(mitochondrial fission)|go:"GO:0000422"(autophagy of mitochondrion)|go:"GO:0001836"(release of cytochrome c from mitochondria)|go:"GO:0005739"(mitochondrion)|go:"GO:0005777"(peroxisome)|go:"GO:0005778"(peroxisomal membrane)|go:"GO:0005779"(integral component of peroxisomal membrane)|go:"GO:0005783"(endoplasmic reticulum)|go:"GO:0005829"(cytosol)|go:"GO:0006626"(protein targeting to mitochondrion)|go:"GO:0007204"(positive regulation of cytosolic calcium ion concentration)|go:"GO:0008053"(mitochondrial fusion)|go:"GO:0010821"(regulation of mitochondrion organization)|go:"GO:0014850"(response to muscle activity)|go:"GO:0016020"(membrane)|go:"GO:0016559"(peroxisome fission)|go:"GO:0031307"(integral component of mitochondrial outer membrane)|go:"GO:0031667"(response to nutrient levels)|go:"GO:0032471"(negative regulation of endoplasmic reticulum calcium ion concentration)|go:"GO:0032991"(protein-containing complex)|go:"GO:0035584"(calcium-mediated signaling using intracellular calcium source)|go:"GO:0042802"(identical protein binding)|go:"GO:0043280"(positive regulation of cysteine-type endopeptidase activity involved in apoptotic process)|go:"GO:0043525"(positive regulation of neuron apoptotic process)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0051561"(positive regulation of mitochondrial calcium ion concentration)|go:"GO:0070584"(mitochondrion morphogenesis)|go:"GO:0071333"(cellular response to glucose stimulus)|go:"GO:0090141"(positive regulation of mitochondrial fission)|go:"GO:0090314"(positive regulation of protein targeting to membrane)|go:"GO:0097237"(cellular response to toxic substance)|go:"GO:1901653"(cellular response to peptide)|go:"GO:1902617"(response to fluoride)|go:"GO:1903579"(negative regulation of ATP metabolic process)|go:"GO:1904579"(cellular response to thapsigargin)|go:"GO:1905395"(response to flavonoid)|go:"GO:1990910"(response to hypobaric hypoxia)|go:"GO:2000192"(negative regulation of fatty acid transport)|go:"GO:2001244"(positive regulation of intrinsic apoptotic signaling pathway)|interpro:IPR011990(Tetratricopeptide-like helical)|interpro:IPR016543(Tetratricopeptide repeat 11 Fission 1 protein)|interpro:IPR028058|interpro:IPR028061|interpro:IPR033745|mint:Q9Y3D6|rcsb pdb:1NZN|rcsb pdb:1PC2|reactome:R-HSA-9603798|go:"GO:0043653"(mitochondrial fragmentation involved in apoptotic process)|refseq:NP_057152.2 - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:Fig 1|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-sw480)|taxid:9606(Human SW480 adenocarcinoma cell line) - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:5YzrFokAQLKvMCqzS12qalQtu489606 rigid:IzspypOOWTSrfqKPuwjXuO3ijKY false myc tag:n-n - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot) uniprotkb:Q9HC29 uniprotkb:P08670 intact:EBI-7445625|uniprotkb:Q96RH5|uniprotkb:Q96RH8|uniprotkb:Q96RH6|uniprotkb:E2JEQ6|intact:MINT-151071|ensembl:ENSP00000300589 intact:EBI-353844|uniprotkb:Q15867|uniprotkb:Q15868|uniprotkb:Q15869|uniprotkb:Q548L2|uniprotkb:Q6LER9|uniprotkb:Q8N850|uniprotkb:Q96ML2|uniprotkb:Q9NTM3|uniprotkb:B0YJC2|intact:EBI-3442369|uniprotkb:D3DRU4|ensembl:ENSP00000224237|ensembl:ENSP00000446007 psi-mi:nod2_human(display_long)|uniprotkb:IBD1(gene name synonym)|uniprotkb:NOD2(gene name)|psi-mi:NOD2(display_short)|uniprotkb:CARD15(gene name synonym)|uniprotkb:Caspase recruitment domain-containing protein 15(gene name synonym)|uniprotkb:Inflammatory bowel disease protein 1(gene name synonym) psi-mi:vime_human(display_long)|uniprotkb:VIM(gene name)|psi-mi:VIM(display_short) psi-mi:"MI:0006"(anti bait coimmunoprecipitation) Nimmo et al. (2011) pubmed:21699783|imex:IM-24348 taxid:9606(human)|taxid:9606(Homo sapiens) taxid:9606(human)|taxid:9606(Homo sapiens) psi-mi:"MI:0915"(physical association) psi-mi:"MI:0469"(IntAct) intact:EBI-10899019|imex:IM-24348-23 - - psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0499"(unspecified role) psi-mi:"MI:0498"(prey) psi-mi:"MI:0496"(bait) psi-mi:"MI:0326"(protein) psi-mi:"MI:0326"(protein) refseq:NP_071445.1|refseq:XP_005256141.1|ensembl:ENSG00000167207(gene)|ensembl:ENST00000300589(transcript)|go:"GO:0002221"(pattern recognition receptor signaling pathway)|go:"GO:0002227"(innate immune response in mucosa)|go:"GO:0002253"(activation of immune response)|go:"GO:0002606"(positive regulation of dendritic cell antigen processing and presentation)|go:"GO:0002710"(negative regulation of T cell mediated immunity)|go:"GO:0002720"(positive regulation of cytokine production involved in immune response)|go:"GO:0002732"(positive regulation of dendritic cell cytokine production)|go:"GO:0002830"(positive regulation of type 2 immune response)|go:"GO:0002862"(negative regulation of inflammatory response to antigenic stimulus)|go:"GO:0002925"(positive regulation of humoral immune response mediated by circulating immunoglobulin)|go:"GO:0003779"(actin binding)|go:"GO:0005524"(ATP binding)|go:"GO:0005737"(cytoplasm)|go:"GO:0005739"(mitochondrion)|go:"GO:0005794"(Golgi apparatus)|go:"GO:0005829"(cytosol)|go:"GO:0016045"(detection of bacterium)|go:"GO:0016323"(basolateral plasma membrane)|go:"GO:0019899"(enzyme binding)|go:"GO:0019901"(protein kinase binding)|go:"GO:0030277"(maintenance of gastrointestinal epithelium)|go:"GO:0030544"(Hsp70 protein binding)|go:"GO:0031982"(vesicle)|go:"GO:0032088"(negative regulation of NF-kappaB transcription factor activity)|go:"GO:0005856"(cytoskeleton)|go:"GO:0032495"(response to muramyl dipeptide)|go:"GO:0005886"(plasma membrane)|go:"GO:0032498"(detection of muramyl dipeptide)|go:"GO:0032500"(muramyl dipeptide binding)|go:"GO:0032689"(negative regulation of interferon-gamma production)|go:"GO:0032695"(negative regulation of interleukin-12 production)|go:"GO:0032701"(negative regulation of interleukin-18 production)|go:"GO:0032703"(negative regulation of interleukin-2 production)|go:"GO:0032720"(negative regulation of tumor necrosis factor production)|go:"GO:0032731"(positive regulation of interleukin-1 beta production)|go:"GO:0006952"(defense response)|go:"GO:0032733"(positive regulation of interleukin-10 production)|go:"GO:0032735"(positive regulation of interleukin-12 production)|go:"GO:0032740"(positive regulation of interleukin-17 production)|go:"GO:0032755"(positive regulation of interleukin-6 production)|go:"GO:0032757"(positive regulation of interleukin-8 production)|go:"GO:0006965"(positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria)|go:"GO:0032760"(positive regulation of tumor necrosis factor production)|go:"GO:0032874"(positive regulation of stress-activated MAPK cascade)|go:"GO:0032991"(protein-containing complex)|go:"GO:0034136"(negative regulation of toll-like receptor 2 signaling pathway)|go:"GO:0035556"(intracellular signal transduction)|go:"GO:0038187"(pattern recognition receptor activity)|go:"GO:0042742"(defense response to bacterium)|go:"GO:0042834"(peptidoglycan binding)|go:"GO:0043123"(positive regulation of I-kappaB kinase/NF-kappaB signaling)|go:"GO:0007584"(response to nutrient)|go:"GO:0043330"(response to exogenous dsRNA)|go:"GO:0043406"(positive regulation of MAP kinase activity)|go:"GO:0043552"(positive regulation of phosphatidylinositol 3-kinase activity)|go:"GO:0044877"(protein-containing complex binding)|go:"GO:0045087"(innate immune response)|go:"GO:0045089"(positive regulation of innate immune response)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045747"(positive regulation of Notch signaling pathway)|go:"GO:0045944"(positive regulation of transcription by RNA polymerase II)|go:"GO:0046330"(positive regulation of JNK cascade)|go:"GO:0046645"(positive regulation of gamma-delta T cell activation)|go:"GO:0009595"(detection of biotic stimulus)|go:"GO:0046658"(anchored component of plasma membrane)|go:"GO:0009986"(cell surface)|go:"GO:0050679"(positive regulation of epithelial cell proliferation)|go:"GO:0050700"(CARD domain binding)|go:"GO:0050727"(regulation of inflammatory response)|go:"GO:0050731"(positive regulation of peptidyl-tyrosine phosphorylation)|go:"GO:0050766"(positive regulation of phagocytosis)|go:"GO:0050830"(defense response to Gram-positive bacterium)|go:"GO:0050871"(positive regulation of B cell activation)|go:"GO:0051092"(positive regulation of NF-kappaB transcription factor activity)|go:"GO:0051353"(positive regulation of oxidoreductase activity)|go:"GO:0051770"(positive regulation of nitric-oxide synthase biosynthetic process)|go:"GO:0051879"(Hsp90 protein binding)|go:"GO:0060585"(positive regulation of prostaglandin-endoperoxide synthase activity)|go:"GO:0070374"(positive regulation of ERK1 and ERK2 cascade)|go:"GO:0070431"(nucleotide-binding oligomerization domain containing 2 signaling pathway)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071224"(cellular response to peptidoglycan)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071407"(cellular response to organic cyclic compound)|go:"GO:0071639"(positive regulation of monocyte chemotactic protein-1 production)|go:"GO:0090022"(regulation of neutrophil chemotaxis)|go:"GO:1900017"(positive regulation of cytokine production involved in inflammatory response)|go:"GO:1901224"(positive regulation of NIK/NF-kappaB signaling)|go:"GO:1902523"(positive regulation of protein K63-linked ubiquitination)|go:"GO:1904417"(positive regulation of xenophagy)|go:"GO:2000110"(negative regulation of macrophage apoptotic process)|go:"GO:2000363"(positive regulation of prostaglandin-E synthase activity)|interpro:IPR001315(Caspase Recruitment)|interpro:IPR001611(Leucine-rich repeat)|interpro:IPR007111(NACHT nucleoside triphosphatase)|interpro:IPR011029(DEATH-like)|interpro:IPR027417|interpro:IPR032675|interpro:IPR041075|interpro:IPR041267|mint:Q9HC29|reactome:R-HSA-168638|reactome:R-HSA-445989|reactome:R-HSA-450302|reactome:R-HSA-450321|reactome:R-HSA-5689896|reactome:R-HSA-9020702|refseq:NP_001280486.1|dip:DIP-41998N refseq:NP_003371.2|ensembl:ENSG00000026025(gene)|ensembl:ENST00000224237(transcript)|ensembl:ENST00000544301(transcript)|go:"GO:0003725"(double-stranded RNA binding)|go:"GO:0005200"(structural constituent of cytoskeleton)|go:"GO:0005212"(structural constituent of eye lens)|go:"GO:0005737"(cytoplasm)|go:"GO:0005777"(peroxisome)|go:"GO:0005815"(microtubule organizing center)|go:"GO:0005829"(cytosol)|go:"GO:0005844"(polysome)|go:"GO:0005856"(cytoskeleton)|go:"GO:0005882"(intermediate filament)|go:"GO:0005886"(plasma membrane)|go:"GO:0005925"(focal adhesion)|go:"GO:0010977"(negative regulation of neuron projection development)|go:"GO:0014002"(astrocyte development)|go:"GO:0016363"(nuclear matrix)|go:"GO:0019904"(protein domain specific binding)|go:"GO:0031252"(cell leading edge)|go:"GO:0032967"(positive regulation of collagen biosynthetic process)|go:"GO:0042802"(identical protein binding)|go:"GO:0043005"(neuron projection)|go:"GO:0043488"(regulation of mRNA stability)|go:"GO:0045109"(intermediate filament organization)|go:"GO:0045111"(intermediate filament cytoskeleton)|go:"GO:0045335"(phagocytic vesicle)|go:"GO:0045727"(positive regulation of translation)|go:"GO:0060020"(Bergmann glial cell differentiation)|go:"GO:0070307"(lens fiber cell development)|go:"GO:0060395"(SMAD protein signal transduction)|go:"GO:0070062"(extracellular exosome)|go:"GO:0071222"(cellular response to lipopolysaccharide)|go:"GO:0071225"(cellular response to muramyl dipeptide)|go:"GO:0071346"(cellular response to interferon-gamma)|go:"GO:0097110"(scaffold protein binding)|go:"GO:1990254"(keratin filament binding)|go:"GO:1990904"(ribonucleoprotein complex)|interpro:IPR006821(Intermediate filament, DNA-binding region)|interpro:IPR018039|interpro:IPR027699|interpro:IPR039008|mint:P08670|rcsb pdb:1GK4|rcsb pdb:1GK6|rcsb pdb:1GK7|rcsb pdb:3G1E|rcsb pdb:3KLT|rcsb pdb:3S4R|rcsb pdb:3SSU|rcsb pdb:3SWK|rcsb pdb:3TRT|rcsb pdb:3UF1|rcsb pdb:4MCY|rcsb pdb:4MCZ|rcsb pdb:4MD0|rcsb pdb:4MD5|rcsb pdb:4MDI|rcsb pdb:4MDJ|rcsb pdb:4YPC|rcsb pdb:4YV3|rcsb pdb:5WHF|rcsb pdb:6ATF|rcsb pdb:6ATI|rcsb pdb:6BIR|rcsb pdb:6YXK|reactome:R-HSA-264870|reactome:R-HSA-390522|reactome:R-HSA-6785807|reactome:R-HSA-9013422|reactome:R-HSA-9613829|reactome:R-HSA-9615710|reactome:R-HSA-9646399|refseq:XP_006717563.1|dip:DIP-32507N - comment:mint|comment:homomint|function:"Induces NF-kappa-B via RICK (CARDIAK, RIP2) and IKK-gamma. Confers responsiveness to intracellular bacterial lipopolysaccharides (LPS)"|function:"Defects in NOD2 are the cause of Blau syndrome (BS) [MIM:186580]. BS is a rare autosomal dominant disorder characterized by early-onset granulomatous arthritis, uveitis and skin rash"|function:"Defects in NOD2 are a cause of susceptibility to Crohn disease (CD) [MIM:266600]. CD is a form of remitting inflammatory bowel disease (IBD). CD may involve any part of the gastrointestinal tract, but most frequently the terminal ileum and colon. Bowel inflammation is transmural and discontinuous. Crohn disease is commonly classified as autoimmune disease"|function:"Defects in NOD2 are a cause of susceptibility to ulcerative colitis [MIM:191390]. It is a chronic inflammatory bowel disease. In ulcerative colitis, the inflammation is continuous and limited to rectal and colonic mucosal layers. Ulcerative colitis is commonly classified as autoimmune disease"|function:"Defects in NOD2 are the cause of early-onset sarcoidosis (EOS) [MIM:609464]. Sarcoidosis is a multiorganic inflammatory disease with unknown etiology, characterized by the histologic features of non-caseating epithelioid granulomas. In childhood, 2 distinct types of sarcoidosis have been described. Usually the disease is detected in older children by chest radiography and the clinical manifestations are characterized by a classical triad of lung, lymph node, and eye involvement, similar to those in adults. In contrast, early-onset sarcoidosis (EOS), which usually appears in those younger than 4 years of age, is quite rare and has a distinct triad of skin, joint, and eye disorders, without apparent pulmonary involvement. Compared with an asymptomatic and sometimes naturally disappearing course of the disease in older children, EOS is progressive and in many cases causes severe complications, such as blindness, joint destruction, and visceral involvement" - figure legend:Fig 1|dataset:Crohn's disease - Interactions of proteins identified as having a link to Crohn's disease|dataset:IBD - Inflammatory bowel disease|full coverage:Only protein-protein interactions|curation depth:imex curation taxid:9606(human-sw480)|taxid:9606(Human SW480 adenocarcinoma cell line) - 2015/07/07 2015/07/08 rogid:cEF3hnDQW90TWXNDH/uqW6/wMhI9606 rogid:GhAhVuXMNxi6P5J0CfNi5l9bjRk9606 rigid:8GNKswWWokd1AtXj5Pzyy7mwoiE false myc tag:n-n - - - psi-mi:"MI:0705"(anti tag western blot) psi-mi:"MI:0705"(anti tag western blot)